716199000: Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Functional finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Functional finding\Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Speech finding\Speech and language finding\...
• \Communication, speech and language finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Developmental disorder\Developmental language disorder\Developmental speech disorder\Speech delay\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\Speech delay\Delayed speech and facial asymmetry with strabismus and ear lobe skin crease 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
3305063013	Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305064019	Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305065018	Mehes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305066017	This syndrome is extremely rare and has characteristics of delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. To date, six cases have been reported in five families. Dysmorphic features include asymmetrical face, unilateral narrow palpebral fissure, divergent strabismus, long philtrum, high-arched palate, apparently low-set ears and transverse ear lobe creases on both sides. Delayed language development is constant but intellectual development can be normal. In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance.	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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