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1169358003: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4607792018 MARCH syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4607793011 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4607794017 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4607795016 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells. 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
MARCH syndrome est un(e) (attribut) hydranencéphalie true Inferred relationship Some
MARCH syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
MARCH syndrome est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
MARCH syndrome est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
MARCH syndrome est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
MARCH syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
MARCH syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
MARCH syndrome survenue (attribut) congénital true Inferred relationship Some 1
MARCH syndrome localisation d'une constatation (attribut) Cerebral hemisphere structure (body structure) true Inferred relationship Some 1
MARCH syndrome morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
MARCH syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
MARCH syndrome survenue (attribut) congénital true Inferred relationship Some 2
MARCH syndrome localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 2
MARCH syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
MARCH syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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