Code System Concept

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Code System Concept

Code System Concept Code	716189005
Code System Concept Name	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)
Code System Preferred Concept Name	Osteoporosis and macrocephaly with blindness and joint hypermobility 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Superseded By Concept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	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3305025017	Heide syndrome	Active	Synonym	false	false
3305028015	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome	Active	Synonym	false	false
3305029011	Osteoporosis and macrocephaly with blindness and joint hyperlaxity 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)

Congenital anomaly of skeletal bone (disorder) {8447006 , SNOMED-CT } Congenital anomaly of visual system (disorder) {127329003 , SNOMED-CT } Congenital macrocephaly (disorder) {1145402008 , SNOMED-CT } Congenital skeletal dysplasia (disorder) {105986008 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Macrocephaly (disorder) {19410003 , 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,