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1197586007: Short stature, advanced bone age, early-onset osteoarthritis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4697260017 Short stature, advanced bone age, early-onset osteoarthritis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697261018 Short stature, advanced bone age, early-onset osteoarthritis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399758010 A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399759019 A rare, primary bone dysplasia characterised by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697260017 Short stature, advanced bone age, early-onset osteoarthritis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697261018 Short stature, advanced bone age, early-onset osteoarthritis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697263015 A rare primary bone dysplasia with characteristics of proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs and lordosis. Caused by heterozygous mutation in the ACAN gene on chromosome 15q26. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399758010 A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399759019 A rare, primary bone dysplasia characterised by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420221001000116 Kleinwuchs-beschleunigte Knochenalterung-früh beginnende Osteoarthritis-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420221001000116 Kleinwuchs-beschleunigte Knochenalterung-früh beginnende Osteoarthritis-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a Advanced bone age true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Interprets Body height measure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature, advanced bone age, early-onset osteoarthritis syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature, advanced bone age, early-onset osteoarthritis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, advanced bone age, early-onset osteoarthritis syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, advanced bone age, early-onset osteoarthritis syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, advanced bone age, early-onset osteoarthritis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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