Code System Concept

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Code System Concept

Code System Concept Code	719944006
Code System Concept Name	Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
Code System Preferred Concept Name	Trichomegaly with retina pigmentary degeneration and dwarfism 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Superseded By Concept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	Active
SDO Concept Status Date	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3318545013	Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Active	Synonym	false	false
3318546014	Oliver McFarlane syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of hair (disorder) {65033000 , SNOMED-CT } Congenital anomaly of retina (disorder) {49381001 , SNOMED-CT } Congenital deformity of face (disorder) {398206004 , SNOMED-CT } Congenital deformity of soft tissue (disorder) {673791000119108 , SNOMED-CT } Congenital structural abnormality of eyelid (disorder) {91158006 , SNOMED-CT } Deformity of eyelid (disorder) {430960001 , SNOMED-CT } Degeneration of retina (disorder) {95695004 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of hair growth (disorder) {267808001 , SNOMED-CT } Ectodermal dysplasia (disorder) {8654005 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , 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,