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719379001: Microcephalus with cardiac defect and lung malsegmentation 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
3316147015 Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316148013 Microcephalus with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316149017 Microcephaly with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316150017 Ellis Yale Winter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316151018 A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy. 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
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) localisation d'une constatation (attribut) structure d'un poumon true Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) interprète (attribut) Birth head circumference true Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) Congenital microcephaly (disorder) true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) microcéphalie false Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) anomalie congénitale du poumon true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'encéphale false Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 5
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 5
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) localisation d'une constatation (attribut) structure d'un poumon false Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) localisation d'une constatation (attribut) cœur false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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