Code System Concept

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Code System Concept

Code System Concept Code	732954002
Code System Concept Name	Osteopenia, intellectual disability, sparse hair syndrome (disorder)
Code System Preferred Concept Name	Osteopenia, intellectual disability, sparse hair 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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3498435018	Kaler Garrity Stern syndrome	Active	Synonym	false	false
3498436017	Osteopenia, intellectual disability, sparse hair 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 } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Dysplasia with decreased bone density (disorder) {254104009 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Mental retardation (disorder) {91138005 , SNOMED-CT } Osteopenia (disorder) {312894000 , 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,