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732954002: Osteopenia, intellectual disability, sparse hair syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498434019 Osteopenia, intellectual disability, sparse hair syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498435018 Kaler Garrity Stern syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498436017 Osteopenia, intellectual disability, sparse hair syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499922012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5490621000241110 syndrome d'ostéopénie, déficience intellectuelle et hypotrichose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a Congenital anomaly of hair true Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a retard mental false Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a Dysplasia with decreased bone density true Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a Osteopenia true Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Finding site Bone structure false Inferred relationship Some 4
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 5
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 5
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Finding site Bone structure false Inferred relationship Some 6
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology Osteopenia false Inferred relationship Some 4
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 6
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Finding site Bone structure true Inferred relationship Some 1
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Finding site Bone structure true Inferred relationship Some 2
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology Osteopenia true Inferred relationship Some 2
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 3
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Interprets Bone density scan true Inferred relationship Some 4
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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