FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

722376008: autosomaal recessief popliteaal pterygiumsyndroom (aandoening)


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
3331740018 Autosomal recessive popliteal pterygium syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331741019 Autosomal recessive popliteal pterygium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331742014 Bartsocas Papas syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331743016 Lethal popliteal pterygium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6035681000146117 autosomaal recessief popliteaal pterygiumsyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6035691000146115 syndroom van Bartsocas-Papas nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6035701000146115 autosomaal recessief popliteaal pterygiumsyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6581421000146111 letaal popliteaal pterygiumsyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3331744010 A rare inherited popliteal pterygium syndrome with characteristics of severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, genital abnormalities and additional ectodermal anomalies (absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period but survival into childhood has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive popliteal pterygium syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Some
Autosomal recessive popliteal pterygium syndrome (disorder) Is a Popliteal pterygium syndrome true Inferred relationship Some
Autosomal recessive popliteal pterygium syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive popliteal pterygium syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Autosomal recessive popliteal pterygium syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
Autosomal recessive popliteal pterygium syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 3
Autosomal recessive popliteal pterygium syndrome (disorder) Finding site Skin structure true Inferred relationship Some 3
Autosomal recessive popliteal pterygium syndrome (disorder) Associated morphology Congenital webbing false Inferred relationship Some 5
Autosomal recessive popliteal pterygium syndrome (disorder) Finding site Popliteal region structure false Inferred relationship Some 5
Autosomal recessive popliteal pterygium syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Autosomal recessive popliteal pterygium syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Autosomal recessive popliteal pterygium syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Autosomal recessive popliteal pterygium syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive popliteal pterygium syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Autosomal recessive popliteal pterygium syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Autosomal recessive popliteal pterygium syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal recessive popliteal pterygium syndrome (disorder) Associated morphology Congenital webbing true Inferred relationship Some 2
Autosomal recessive popliteal pterygium syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Autosomal recessive popliteal pterygium syndrome (disorder) Finding site Popliteal region structure true Inferred relationship Some 2
Autosomal recessive popliteal pterygium syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Autosomal recessive popliteal pterygium syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start