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1208346003: Congenital hydrocephalus, low insertion of umbilicus syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4963754012 Palmer Pagon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963755013 Congenital hydrocephalus, low insertion of umbilicus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963757017 Congenital hydrocephalus, low insertion of umbilicus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963756014 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad flat nasal bridge and small bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. 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
Congenital hydrocephalus, low insertion of umbilicus syndrome Is a Congenital umbilical defect true Inferred relationship Some
Congenital hydrocephalus, low insertion of umbilicus syndrome Is a Congenital hydrocephalus true Inferred relationship Some
Congenital hydrocephalus, low insertion of umbilicus syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Congenital hydrocephalus, low insertion of umbilicus syndrome Is a Genetic disease true Inferred relationship Some
Congenital hydrocephalus, low insertion of umbilicus syndrome Occurrence Congenital true Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology Dilatation true Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Occurrence Congenital true Inferred relationship Some 2
Congenital hydrocephalus, low insertion of umbilicus syndrome Finding site Umbilical structure true Inferred relationship Some 2
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Congenital hydrocephalus, low insertion of umbilicus syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital hydrocephalus, low insertion of umbilicus syndrome Occurrence Congenital true Inferred relationship Some 3
Congenital hydrocephalus, low insertion of umbilicus syndrome Finding site Face structure true Inferred relationship Some 3
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Congenital hydrocephalus, low insertion of umbilicus syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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