715464002: Microcephalus microcornea syndrome of Seemanova type (disorder)

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

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus microcornea syndrome of Seemanova type (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus microcornea syndrome of Seemanova type (disorder)

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Finding of head region\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Microcephalus microcornea syndrome of Seemanova type (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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus microcornea syndrome of Seemanova type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\Microcephalus microcornea syndrome of Seemanova type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302716010 Microcephalus microcornea syndrome of Seemanova type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302717018 Microcephalus microcornea syndrome of Seemanova type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302718011 Microcephaly microcornea syndrome Seemanova type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302719015 Seemanova Lesny syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302720014 Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3859041000052113 syndrom med mikrocefali och mikrokornea sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	mikrocefali	false	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	Microcornea	true	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Microcephalus microcornea syndrome of Seemanova type (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Microcephalus microcornea syndrome of Seemanova type (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Microcephalus microcornea syndrome of Seemanova type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Microcephalus microcornea syndrome of Seemanova type (disorder)	Finding site	Corneal structure	false	Inferred relationship	Some	3
Microcephalus microcornea syndrome of Seemanova type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephalus microcornea syndrome of Seemanova type (disorder)	Finding site	Corneal structure	true	Inferred relationship	Some	2
Microcephalus microcornea syndrome of Seemanova type (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Microcephalus microcornea syndrome of Seemanova type (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microcephalus microcornea syndrome of Seemanova type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microcephalus microcornea syndrome of Seemanova type (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	1
Microcephalus microcornea syndrome of Seemanova type (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302716010	Microcephalus microcornea syndrome of Seemanova type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302717018	Microcephalus microcornea syndrome of Seemanova type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302718011	Microcephaly microcornea syndrome Seemanova type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302719015	Seemanova Lesny syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302720014	Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3859041000052113	syndrom med mikrocefali och mikrokornea	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)