Code System Concept

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Code System Concept

Code System Concept Code	722111004
Code System Concept Name	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
Code System Preferred Concept Name	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
Concept Status	Published
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Superseded By Concept
SDO Concept Status	Inactive
SDO Concept Status Date	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	06/30/2022
Description	This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3330736016	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Congenital anomaly of skeletal bone (disorder) {8447006 , SNOMED-CT } Congenital connective tissue disorder (disorder) {363039000 , SNOMED-CT } Congenital hearing disorder (disorder) {95827002 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Mental retardation (disorder) {91138005 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Osteopenia (disorder) {312894000 , SNOMED-CT } Sensorineural hearing loss (disorder) {60700002 , 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,