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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\MMEP syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\MMEP syndrome
\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\MMEP syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\MMEP syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\MMEP syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\MMEP syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\MMEP syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\MMEP syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\MMEP syndrome

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

\Disease\Genetic disease\MMEP syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\MMEP syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\MMEP syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\MMEP syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\MMEP syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\MMEP syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\MMEP syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\MMEP syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\MMEP syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\MMEP syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\MMEP syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\MMEP 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\MMEP syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\MMEP syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\MMEP syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\MMEP syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\MMEP syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\MMEP syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\MMEP syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1672671000168112 MMEP (microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism) syndrome en Synonym Active Case sensitive SNOMED Clinical Terms Australian extension

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

3302951010 Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome en Synonym Active Case insensitive SNOMED CT core

3302952015 MMEP syndrome en Synonym Active Case sensitive SNOMED CT core

3302953013 Syndromic microphthalmia type 8 en Synonym Active Case insensitive SNOMED CT core

3302954019 Viljoen Smart syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1672671000168112	MMEP (microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism) syndrome	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
3302950011	Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302951010	Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302952015	MMEP syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3302953013	Syndromic microphthalmia type 8	en	Synonym	Active	Case insensitive	SNOMED CT core
3302954019	Viljoen Smart syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core