Code System Concept

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Code System Concept

Code System Concept Code	773553003
Code System Concept Name	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
Code System Preferred Concept Name	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability 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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3724060019	Shaheen syndrome	Active	Synonym	false	false
3724062010	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Enamel hypoplasia (disorder) {26597004 , SNOMED-CT } Hereditary diffuse palmoplantar keratoderma (disorder) {400123002 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Hereditary disorder of tooth (disorder) {1148766007 , SNOMED-CT } Hypohidrosis (disorder) {45004005 , SNOMED-CT } Inherited disorder of keratinization (disorder) {254214009 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Keratosis (disorder) {254666005 , SNOMED-CT } Rough skin (finding) {816995008 , 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,