763130006: Cleft palate, large ears, small head syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Cleft palate\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Cleft palate, large ears, small head syndrome
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Cleft palate, large ears, small head syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Ear and auditory finding (finding)\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Cleft palate, large ears, small head syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Cleft palate, large ears, small head syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Cleft palate, large ears, small head syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3637954018	Cleft palate, large ears, small head syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637955017	Say Barber Hobbs syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637956016	Cleft palate, large ears, small head syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403946012	Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403947015	Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterised by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	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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