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722006004: isotretinoïne-achtig syndroom (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330109011 Isotretinoin embryopathy-like syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330110018 Isotretinoin-like syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330111019 Kawashima syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330112014 Microtia aortic arch syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330116012 Isotretinoin embryopathy-like syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
9158171000146118 isotretinoin embryopathy-like syndrome nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9158181000146116 Kawashima-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9748531000146118 isotretinoïne-achtig syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9748541000146114 isotretinoïne-achtig syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9748551000146112 microtie-aortaboogsyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3330113016 Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. It has been described in six male patients, three of them being siblings born to nonconsanguineous parents. It has characteristics of the same anomalies as those described after maternal treatment with the drug isotretinoin: malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities). As the syndrome has only been reported in males, X-linked recessive inheritance is possible but autosomal recessive inheritance cannot be ruled out. 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
Isotretinoin embryopathy-like syndrome (disorder) Is a Microtia true Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Is a Congenital anomaly of aortic arch true Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Is a Congenital anomaly of central nervous system true Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Isotretinoin embryopathy-like syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Isotretinoin embryopathy-like syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Isotretinoin embryopathy-like syndrome (disorder) Finding site Structure of central nervous system (body structure) false Inferred relationship Some 6
Isotretinoin embryopathy-like syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 4
Isotretinoin embryopathy-like syndrome (disorder) Finding site External ear structure true Inferred relationship Some 4
Isotretinoin embryopathy-like syndrome (disorder) Finding site Face structure false Inferred relationship Some 5
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 7
Isotretinoin embryopathy-like syndrome (disorder) Finding site Aortic arch structure false Inferred relationship Some 7
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Isotretinoin embryopathy-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Isotretinoin embryopathy-like syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Isotretinoin embryopathy-like syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Isotretinoin embryopathy-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Isotretinoin embryopathy-like syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Isotretinoin embryopathy-like syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Isotretinoin embryopathy-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Isotretinoin embryopathy-like syndrome (disorder) Finding site Aortic arch structure true Inferred relationship Some 1
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Isotretinoin embryopathy-like syndrome (disorder) Finding site Face structure true Inferred relationship Some 3
Isotretinoin embryopathy-like syndrome (disorder) Finding site Structure of central nervous system (body structure) true Inferred relationship Some 2
Isotretinoin embryopathy-like syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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