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


Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4607792018 MARCH syndrome en Synonym Active Case sensitive SNOMED CT core
4607793011 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4607794017 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
MARCH syndrome Is a Hydranencephaly true Inferred relationship Some
MARCH syndrome Is a Developmental hereditary disorder true Inferred relationship Some
MARCH syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
MARCH syndrome Is a Hereditary nephropathy true Inferred relationship Some
MARCH syndrome Is a Congenital anomaly of the kidney true Inferred relationship Some
MARCH syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
MARCH syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
MARCH syndrome Occurrence Congenital true Inferred relationship Some 1
MARCH syndrome Finding site Cerebral hemisphere structure true Inferred relationship Some 1
MARCH syndrome Associated morphology Absence true Inferred relationship Some 1
MARCH syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
MARCH syndrome Occurrence Congenital true Inferred relationship Some 2
MARCH syndrome Finding site Kidney structure true Inferred relationship Some 2
MARCH syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
MARCH syndrome Pathological process Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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