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1197215004: Microform holoprosencephaly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4695462014 Holoprosencephaly minor form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4695463016 HPE (holoprosencephaly) minor form en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4695464010 Microform holoprosencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4695465011 Holoprosencephaly-like en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4695466012 Microform holoprosencephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399714010 A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399715011 A benign form of holoprosencephaly characterised by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor. 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
Microform holoprosencephaly Is a Holoprosencephaly sequence true Inferred relationship Some
Microform holoprosencephaly Occurrence Congenital true Inferred relationship Some 1
Microform holoprosencephaly Finding site Head structure true Inferred relationship Some 1
Microform holoprosencephaly Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Microform holoprosencephaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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