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720573009: Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3321288010 Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321289019 Brachymorphism with onychodysplasia and dysphalangism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321290011 Senior syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321291010 BOD (brachymorphism, onychodysplasia, dysphalangism) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402410018 A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402411019 A rare malformation syndrome that is characterised by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321288010 Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321288010 Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321289019 Brachymorphism with onychodysplasia and dysphalangism syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321289019 Brachymorphism with onychodysplasia and dysphalangism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321290011 Senior syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321291010 BOD (brachymorphism, onychodysplasia, dysphalangism) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321292015 A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402410018 A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402411019 A rare malformation syndrome that is characterised by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434821001000112 Brachymorphie-Onychodysplasie-Dysphalangie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5766201000241113 syndrome de Senior fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5766211000241110 syndrome de brachymorphie, onychodysplasie et dysphalangie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5766221000241115 syndrome BOD (brachymorphie onychodysplasie dysphalangie) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5766201000241113 syndrome de Senior fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5766211000241110 syndrome de brachymorphie, onychodysplasie et dysphalangie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5766221000241115 syndrome BOD (brachymorphie onychodysplasie dysphalangie) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434821001000112 Brachymorphie-Onychodysplasie-Dysphalangie-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
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Congenital anomaly of nail true Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachymorphism with onychodysplasia and dysphalangism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachymorphism with onychodysplasia and dysphalangism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachymorphism with onychodysplasia and dysphalangism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachymorphism with onychodysplasia and dysphalangism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachymorphism with onychodysplasia and dysphalangism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymorphism with onychodysplasia and dysphalangism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachymorphism with onychodysplasia and dysphalangism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachymorphism with onychodysplasia and dysphalangism syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachymorphism with onychodysplasia and dysphalangism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachymorphism with onychodysplasia and dysphalangism syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Brachymorphism with onychodysplasia and dysphalangism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Skin lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a Congenital dysplasia of limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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