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721976003: syndroom van longagenesie, hartdefect en afwijking van digiti I (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
3330003010 Mardini Nyhan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330005015 Lung agenesis with heart defect and thumb anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330006019 Lung agenesis with heart defect and thumb anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6114201000146111 syndroom van Mardini-Nyhan nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6727871000146113 syndroom van pulmonale agenesie, hartdefect en anomalieën van duim nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6727881000146110 syndroom van longagenesie, hartdefect en duimanomalieën nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12020161000146113 syndroom van longagenesie, hartdefect en afwijking van digiti I (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12208631000146113 syndroom van longagenesie, hartdefect en afwijking van digiti I nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3330004016 A very rare syndrome with characteristics of unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. It has been described in 7 patients. Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development. 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
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a Congenital absence of lung false Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a Congenital malformation of thumb (disorder) true Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 3
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Finding site Lung structure false Inferred relationship Some 3
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Finding site Thumb structure false Inferred relationship Some 5
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Finding site Thumb structure true Inferred relationship Some 3
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Finding site Heart structure false Inferred relationship Some 4
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Finding site Heart structure true Inferred relationship Some 2
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Finding site Lung structure true Inferred relationship Some 1
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Associated morphology Aplasia true Inferred relationship Some 1
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a Congenital aplasia of lung (disorder) true Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly 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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