715533002: Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

\Disease\Genetic disease\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism 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\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3302950011 Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3302951010 Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3302952015 MMEP syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3302953013 Syndromic microphthalmia type 8 en Synonym Active Entire term case insensitive SNOMED CT core module

3302954019 Viljoen Smart syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Is a	Microphthalmos	true	Inferred relationship	Existential restriction modifier
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Is a	Congenital prognathism	true	Inferred relationship	Existential restriction modifier
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Is a	Ectrodactyly	true	Inferred relationship	Existential restriction modifier
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Associated morphology	Congenital protrusion	false	Inferred relationship	Existential restriction modifier	5
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Finding site	Jaw region structure	false	Inferred relationship	Existential restriction modifier	5
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	6
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	7
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Finding site	Entire digit	false	Inferred relationship	Existential restriction modifier	7
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	6
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Finding site	Entire eye	true	Inferred relationship	Existential restriction modifier	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Finding site	Jaw region structure	false	Inferred relationship	Existential restriction modifier	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Associated morphology	Congenital deviation	false	Inferred relationship	Existential restriction modifier	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Associated morphology	Protrusion	true	Inferred relationship	Existential restriction modifier	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Finding site	Bone structure of jaw	true	Inferred relationship	Existential restriction modifier	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Associated morphology	Absence	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier

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
3302950011	Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3302951010	Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302952015	MMEP syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3302953013	Syndromic microphthalmia type 8	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302954019	Viljoen Smart syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module