Code System Concept

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Code System Concept

Code System Concept Code	724280001
Code System Concept Name	Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder)
Code System Preferred Concept Name	Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder)
Concept Status	Retired
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept	Concept Code: 719097002 Concept Name: Branchioskeletogenital syndrome (disorder) Code System: SNOMED-CT
SDO Concept Status	Inactive
SDO Concept Status Date	07/31/2019
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2019
Description	A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3498184016	Hypospadias, hypertelorism, coloboma, deafness syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Disease	8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Coloboma of eyelid (disorder) {95202004 , SNOMED-CT } Coloboma of superior eyelid (disorder) {763132003 , SNOMED-CT } Congenital hearing disorder (disorder) {95827002 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Hearing loss associated with syndrome (disorder) {232333009 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of the urinary system (disorder) {363338001 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Hypertelorism (disorder) {22006008 , SNOMED-CT } Hypospadias (disorder) {416010008 , SNOMED-CT } Lesion of upper eyelid (disorder) {49901000119105 , SNOMED-CT } Mixed conductive AND sensorineural hearing loss (disorder) {77507001 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Short stature disorder (disorder) {237836003 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,