715464002: Microcephalus microcornea syndrome of Seemanova type (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Seemanova Lesny syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Seemanova Lesny syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Seemanova Lesny syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Seemanova Lesny syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Seemanova Lesny syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Seemanova Lesny syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Seemanova Lesny syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Seemanova Lesny syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Seemanova Lesny syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Seemanova Lesny syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Seemanova Lesny syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Seemanova Lesny syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Seemanova Lesny syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Seemanova Lesny syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Seemanova Lesny syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Seemanova Lesny syndrome

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3302717018 Microcephalus microcornea syndrome of Seemanova type en Synonym Active Initial character case insensitive SNOMED CT core

3302718011 Microcephaly microcornea syndrome Seemanova type en Synonym Active Initial character case insensitive SNOMED CT core

3302719015 Seemanova Lesny syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302716010	Microcephalus microcornea syndrome of Seemanova type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3302717018	Microcephalus microcornea syndrome of Seemanova type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3302718011	Microcephaly microcornea syndrome Seemanova type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3302719015	Seemanova Lesny syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core