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30915001: Holoprosencephaly sequence (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
51765017 Holoprosencephaly sequence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
51766016 Holoprosencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
51768015 Familial alobar holoprosencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484738017 HPE - Holoprosencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
761977010 Holoprosencephaly sequence (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
51765017 Holoprosencephaly sequence en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
51765017 Holoprosencephaly sequence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
51766016 Holoprosencephaly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
51766016 Holoprosencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
51767013 Arhinencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
51768015 Familial alobar holoprosencephaly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
51768015 Familial alobar holoprosencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484737010 Arrhinencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
484738017 HPE - Holoprosencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
761977010 Holoprosencephaly sequence (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
761977010 Holoprosencephaly sequence (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3415481001000115 Holoprosenzephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
599081000172111 holoprosencéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
599081000172111 holoprosencéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415481001000115 Holoprosenzephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

17 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Holoprosencephaly sequence Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence Is a Defect of telencephalic division false Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence Is a Malformation sequence true Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 2
Holoprosencephaly sequence Finding site Prosencephalon structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Holoprosencephaly sequence Finding site Structure of telencephalon false Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
Holoprosencephaly sequence Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Holoprosencephaly sequence Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly sequence Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence Finding site Structure of telencephalon (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Holoprosencephaly sequence Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Holoprosencephaly sequence Finding site Prosencephalon structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly sequence Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly sequence Finding site Structure of telencephalon (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Holoprosencephaly sequence Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence Finding site Prosencephalon structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly sequence Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly sequence Is a Disorder of embryonic structure (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Holoprosencephaly sequence Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Holoprosencephaly sequence Is a Congenital anomaly of head true Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence Finding site Head structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Holoprosencephaly sequence Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly sequence Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly sequence Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly sequence Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Lobar holoprosencephaly Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Alobar holoprosencephaly Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Semi-lobar holoprosencephaly (disorder) Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Kundrat's syndrome Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Cebocephaly Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly craniosynostosis syndrome Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly and postaxial polydactyly syndrome (disorder) Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Steinfeld syndrome (disorder) Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Ethmocephalus Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, multiple congenital anomalies syndrome characterised by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly with caudal dysgenesis syndrome Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Middle interhemispheric variant of holoprosencephaly Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis (disorder) Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Microform holoprosencephaly Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic agenesis, holoprosencephaly syndrome (disorder) Is a True Holoprosencephaly sequence Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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