721879006: syndroom van microftalmie met lineaire huiddefecten (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microphthalmia with linear skin defect syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Microphthalmia with linear skin defect syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with linear skin defect syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Microphthalmia with linear skin defect syndrome (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microphthalmia with linear skin defect syndrome (disorder)	Is a	Microphthalmos	true	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	2
Microphthalmia with linear skin defect syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microphthalmia with linear skin defect syndrome (disorder)	Finding site	geheel oog (lichaamsstructuur)	false	Inferred relationship	Some	2
Microphthalmia with linear skin defect syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Microphthalmia with linear skin defect syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Microphthalmia with linear skin defect syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Microphthalmia with linear skin defect syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	3
Microphthalmia with linear skin defect syndrome (disorder)	Finding site	geheel oog (lichaamsstructuur)	false	Inferred relationship	Some	3
Microphthalmia with linear skin defect syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Microphthalmia with linear skin defect syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Microphthalmia with linear skin defect syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microphthalmia with linear skin defect syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microphthalmia with linear skin defect syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microphthalmia with linear skin defect syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	Finding site	Entire eye proper	true	Inferred relationship	Some	2
Microphthalmia with linear skin defect syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3326425013	Microphthalmia with linear skin defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326426014	Microphthalmia with linear skin defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326427017	Syndromic microphthalmia type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326428010	MIDAS syndrome (microphthalmia, dermal aplasia, sclerocornea) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326429019	MIDAS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6140431000146118	microftalmie met lineaire huiddefecten-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6140441000146114	syndromale microftalmie type 7	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6140451000146112	MIDAS-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6140471000146116	microftalmie-dermale aplasie-sclerocornea-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6677191000146114	syndroom van microftalmie met lineaire huiddefecten	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6677201000146111	syndroom van microftalmie met lineaire huiddefecten (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3326430012	Syndrome with characteristics of ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core