FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server  |   User: [n/a]

720952001: Aplasia of fibula and ectrodactyly 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 Reference Sets
3322619019 Aplasia of fibula and ectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3322620013 Fibular aplasia and ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3322621012 Familial ectrodactyly with fibular aplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3322622017 Aplasia of fibula and ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3322623010 This syndrome has characteristics of fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Ectrodactyly true Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Dysostosis true Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Congenital anomaly of fibula false Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Bone structure true Inferred relationship Some 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 4
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Bone structure of fibula false Inferred relationship Some 4
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 5
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Entire digit false Inferred relationship Some 5
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Aplasia true Inferred relationship Some 2
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Bone structure of fibula true Inferred relationship Some 2
Aplasia of fibula and ectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Aplasia of fibula and ectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Entire digit true Inferred relationship Some 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Adactyly false Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Absence of fibula false Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Congenital absence of fibula true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start