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

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome (disorder)
\Head finding (finding)\Finding of head region\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\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 (disorder)
\Head finding (finding)\Finding of head region\Ear finding (finding)\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\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 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\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 (disorder)
\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 (disorder)

\Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Cleft palate, large ears, small head syndrome (disorder)
\Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome (disorder)

\Ear, nose and throat finding\Ear finding (finding)\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Cleft palate, large ears, small head syndrome (disorder)

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome (disorder)
\Ear and auditory 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 (disorder)
\Ear and auditory 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 (disorder)
\Ear and auditory finding\Ear finding (finding)\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Ear and auditory finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Ear and auditory finding\Ear finding (finding)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)

\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 (disorder)
\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 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Cleft palate, large ears, small head syndrome (disorder)
\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 (disorder)
\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 (disorder)
\Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\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 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\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 (disorder)
\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 (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome (disorder)
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Cleft palate, large ears, small head syndrome (disorder)

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

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

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

1059531000195119 Gaumenspalte-grosse Ohren-Kleinwuchs-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5856551000241115 syndrome de fente palatine, grandes oreilles et petite tête fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5856551000241115 syndrome de fente palatine, grandes oreilles et petite tête fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1059531000195119 Gaumenspalte-grosse Ohren-Kleinwuchs-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3435831001000111 Gaumenspalte-große Ohren-Kleinwuchs-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cleft palate, large ears, small head syndrome (disorder)	Is a	microcéphalie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Is a	Macrotia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Is a	Cleft palate	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Is a	Short stature disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Is a	Digestive system hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft palate, large ears, small head syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft palate, large ears, small head syndrome (disorder)	Finding site	Palatal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft palate, large ears, small head syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft palate, large ears, small head syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft palate, large ears, small head syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleft palate, large ears, small head syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleft palate, large ears, small head syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft palate, large ears, small head syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleft palate, large ears, small head syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleft palate, large ears, small head syndrome (disorder)	Finding site	Entire external ear (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft palate, large ears, small head syndrome (disorder)	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft palate, large ears, small head syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft palate, large ears, small head syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft palate, large ears, small head syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft palate, large ears, small head syndrome (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft palate, large ears, small head syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft palate, large ears, small head syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cleft palate, large ears, small head syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft palate, large ears, small head syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft palate, large ears, small head syndrome (disorder)	Finding site	Head structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleft palate, large ears, small head syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cleft palate, large ears, small head syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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
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
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
1059531000195119	Gaumenspalte-grosse Ohren-Kleinwuchs-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5856551000241115	syndrome de fente palatine, grandes oreilles et petite tête	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5856551000241115	syndrome de fente palatine, grandes oreilles et petite tête	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1059531000195119	Gaumenspalte-grosse Ohren-Kleinwuchs-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435831001000111	Gaumenspalte-große Ohren-Kleinwuchs-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module