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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \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)
• \constatation à propos d'une région de la tête et du cou\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\constatation à propos d'un globe oculaire\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\affection de la mâchoire\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \affection de la tête\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)
• \affection de la tête\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)
• \affection de la tête\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)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \affection de la tête\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)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\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)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\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\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\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\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\Genetic disease\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\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\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection de la tête\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\affection de la tête\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\affection de la tête\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\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection de la tête\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\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\Congenital disease\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\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\Congenital disease\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\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\Congenital disease\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\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\Congenital disease\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\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\trouble du développement\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

Expanded Value Set

This concept is not in any reference sets

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