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720575002: VATER-achtig syndroom van pulmonale hypertensie, abnormale oren en groeiachterstand (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
3321296017 Braddock syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321297014 Braddock syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321298016 VATER-like syndrome with pulmonary hypertension, abnormal ear and growth deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6055261000146112 syndroom van Braddock nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722581000146111 VATER-achtig syndroom van pulmonale hypertensie, abnormale oren en groeiachterstand nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722591000146113 VATER-achtig syndroom van pulmonale hypertensie, abnormale oren en groeiachterstand (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3321299012 A rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, with characteristics of VATER-like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. 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
Braddock syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Braddock syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Braddock syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Braddock syndrome (disorder) Is a Heritable pulmonary arterial hypertension true Inferred relationship Some
Braddock syndrome (disorder) Finding site Pulmonary artery structure false Inferred relationship Some
Braddock syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
Braddock syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Braddock syndrome (disorder) Finding site Pulmonary artery structure true Inferred relationship Some 1
Braddock syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Braddock syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Braddock syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Braddock 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

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