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

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

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\...

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

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

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

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

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

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

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

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

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

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

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

3302952015 MMEP syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302953013 Syndromic microphthalmia type 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302954019 Viljoen Smart syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302955018 A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4765341000172114 syndroom van microcefalie, microftalmie, ectrodactylie van onderste extremiteiten en prognathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	microcéphalie	false	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	Microphthalmos	true	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	Congenital prognathism	true	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	Ectrodactyly	true	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	Congenital protrusion	false	Inferred relationship	Some	5
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Finding site	Jaw region structure	false	Inferred relationship	Some	5
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	6
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	7
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Finding site	Entire digit	false	Inferred relationship	Some	7
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	6
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Finding site	Entire eye	true	Inferred relationship	Some	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Finding site	Jaw region structure	false	Inferred relationship	Some	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	Congenital deviation	false	Inferred relationship	Some	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Finding site	Entire digit	true	Inferred relationship	Some	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	Protrusion	true	Inferred relationship	Some	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Finding site	Bone structure of jaw (body structure)	true	Inferred relationship	Some	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	Genetic disease	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
3302950011	Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302951010	Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302952015	MMEP syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302953013	Syndromic microphthalmia type 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302954019	Viljoen Smart syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302955018	A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4765341000172114	syndroom van microcefalie, microftalmie, ectrodactylie van onderste extremiteiten en prognathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)