Code System Concept

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Code System Concept

Code System Concept Code	1237228009
Code System Concept Name	Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
Code System Preferred Concept Name	Night blindness, skeletal anomalies, 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Superseded By Concept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	Active
SDO Concept Status Date	03/01/2023
SDO Date Created	08/31/2022
SDO Date Revised	08/31/2022
Description	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5091258010	Night blindness, skeletal anomalies, dysmorphism syndrome	Active	Synonym	false	false
5091259019	Hunter Thompson Reed syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Chronic disease of musculoskeletal system (disorder) {128237006 , SNOMED-CT } Congenital anomaly of musculoskeletal system (disorder) {73573004 , SNOMED-CT } Disorder of skeletal system (disorder) {88230002 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Night blindness (disorder) {65194006 , 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,