Code System Concept

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Code System Concept

Code System Concept Code	1208985003
Code System Concept Name	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder)
Code System Preferred Concept Name	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (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Superseded By Concept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	09/01/2022
SDO Date Created	03/31/2022
SDO Date Revised	03/31/2022
Description	A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leucoencephalopathy and ventricular dilation.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5013853012	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Active	Synonym	false	false
5013855017	RHOA (ras homolog family member A) related mosaic ectodermal dysplasia	Active	Synonym	false	false
5013856016	RHOA-related mosaic ectodermal dysplasia	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Congenital deficiency of pigment of skin (disorder) {1953005 , SNOMED-CT } Congenital hypotrichia (disorder) {56558005 , SNOMED-CT } Ectodermal dysplasia with hair-tooth defects (disorder) {239027006 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Genetic disorder of skin pigmentation (disorder) {724839001 , SNOMED-CT } Multiple malformation syndrome with facial-limb defects as major feature (disorder) {23359005 , 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,