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771146007: Holoprosencephaly with caudal dysgenesis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3704569016 Holoprosencephaly with caudal dysgenesis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704570015 Holoprosencephaly with caudal dysgenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704571016 A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). 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
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Caudal regression syndrome false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Holoprosencephaly sequence true Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Finding site Sacral spine structure false Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Finding site Head structure true Inferred relationship Some 2
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Disorder of sacrum true Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Congenital anomaly of lower trunk false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Skeletal dysplasia false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Sacral spine finding false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Congenital anomaly of lower limb (disorder) false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Congenital anomaly of musculoskeletal structure of trunk false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Congenital anomaly of body wall false Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Congenital anomaly of the pelvis true Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Finding site Structure of sacral vertebral column region (body structure) true Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Congenital anomaly of spinal cord (disorder) true Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a Congenital dysplasia of limb (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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