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890439005: Brachydactyly type D (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4012572019 Brachydactyly type D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4012574018 Brachydactyly type D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4016121015 A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4016122010 A congenital malformation of the digits characterized by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4012572019 Brachydactyly type D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4012574018 Brachydactyly type D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4016121015 A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4016122010 A congenital malformation of the digits characterized by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5600401000241116 syndrome de brachydactylie de type D fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5600401000241116 syndrome de brachydactylie de type D fr Synonym (core metadata concept) Active Only initial character 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
Brachydactyly type D (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Finding of bone in hand true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Longitudinal deficiency of part of upper limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Brachydactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type D (disorder) Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type D (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type D (disorder) Is a Congenital malformation of thumb true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Congenital deformity of toe (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Deformity of thumb true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Congenital undergrowth of partial lower limb true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Finding of musculoskeletal structure of thumb true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Deformity of phalanx of toe true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Perodactylia of great toe true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Finding site Bone structure of distal phalanx of thumb true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type D (disorder) Finding site Structure of distal phalanx of great toe (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly type D (disorder) Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly type D (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly type D (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly type D (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Congenital deformity of hand (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a Congenital deformity of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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