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722006004: Isotretinoin embryopathy-like syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3330110018 Isotretinoin-like syndrome en Synonym Active Case insensitive SNOMED CT core
3330111019 Kawashima syndrome en Synonym Active Case sensitive SNOMED CT core
3330112014 Microtia aortic arch syndrome en Synonym Active Case insensitive SNOMED CT core
3330116012 Isotretinoin embryopathy-like syndrome en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Isotretinoin-like syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Isotretinoin-like syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Isotretinoin-like syndrome Occurrence Congenital true Inferred relationship Some 2
Isotretinoin-like syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Isotretinoin-like syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Isotretinoin-like syndrome Occurrence Congenital true Inferred relationship Some 1
Isotretinoin-like syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Isotretinoin-like syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Isotretinoin-like syndrome Occurrence Congenital true Inferred relationship Some 3
Isotretinoin-like syndrome Finding site Aortic arch structure true Inferred relationship Some 1
Isotretinoin-like syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Isotretinoin-like syndrome Finding site Face structure true Inferred relationship Some 3
Isotretinoin-like syndrome Finding site Structure of central nervous system true Inferred relationship Some 2
Isotretinoin-like syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Isotretinoin-like syndrome Is a Microtia true Inferred relationship Some
Isotretinoin-like syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Isotretinoin-like syndrome Is a Congenital anomaly of aortic arch true Inferred relationship Some
Isotretinoin-like syndrome Is a Congenital anomaly of central nervous system true Inferred relationship Some
Isotretinoin-like syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Isotretinoin-like syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Isotretinoin-like syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Isotretinoin-like syndrome Occurrence Congenital true Inferred relationship Some 4
Isotretinoin-like syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Isotretinoin-like syndrome Occurrence Congenital false Inferred relationship Some 5
Isotretinoin-like syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Isotretinoin-like syndrome Occurrence Congenital false Inferred relationship Some 6
Isotretinoin-like syndrome Finding site Structure of central nervous system false Inferred relationship Some 6
Isotretinoin-like syndrome Occurrence Congenital false Inferred relationship Some 7
Isotretinoin-like syndrome Associated morphology Congenital smallness true Inferred relationship Some 4
Isotretinoin-like syndrome Finding site External ear structure true Inferred relationship Some 4
Isotretinoin-like syndrome Finding site Face structure false Inferred relationship Some 5
Isotretinoin-like syndrome Associated morphology Developmental abnormality false Inferred relationship Some 7
Isotretinoin-like syndrome Finding site Aortic arch structure false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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