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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\fente palatine\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos de l'oreille et de l'audition\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\...
• \Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Cleft palate, large ears, small head syndrome
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Cleft palate, large ears, small head syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate, large ears, small head syndrome
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate, large ears, small head syndrome
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Cleft palate, large ears, small head syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate, large ears, small head syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate, large ears, small head syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Cleft palate, large ears, small head syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Cleft palate, large ears, small head syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate, large ears, small head syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate, large ears, small head syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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
3637957013	A rare genetic syndrome with characteristics of 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, hypospadia, 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

This concept is not in any reference sets

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