773282001: Macrosomia, microphthalmia, cleft palate syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Macrosomia, microphthalmia, cleft palate syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3722889019 Macrosomia, microphthalmia, cleft palate syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3722890011 Teebi Al Saleh Hassoon syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3722891010 Macrosomia, microphthalmia, cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Macrosomia, microphthalmia, cleft palate syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Macrosomia, microphthalmia, cleft palate syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Macrosomia, microphthalmia, cleft palate syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Macrosomia, microphthalmia, cleft palate syndrome	Finding site	Entire eye	true	Inferred relationship	Existential restriction modifier	1
Macrosomia, microphthalmia, cleft palate syndrome	Is a	Microphthalmos	true	Inferred relationship	Existential restriction modifier
Macrosomia, microphthalmia, cleft palate syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
Macrosomia, microphthalmia, cleft palate syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Existential restriction modifier
Macrosomia, microphthalmia, cleft palate syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Macrosomia, microphthalmia, cleft palate syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3722889019	Macrosomia, microphthalmia, cleft palate syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3722890011	Teebi Al Saleh Hassoon syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3722891010	Macrosomia, microphthalmia, cleft palate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module