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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \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)
• \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\Protrusion of bone\Congenital prognathism\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 foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\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\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
5400954010	The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400955011	The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterised by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The aetiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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