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

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head finding\Finding of head region\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head finding\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head 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
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head 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
\Finding of head and neck region\Head finding\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\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
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\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
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Finding of head and neck region\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

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

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Cleft palate, large ears, small head syndrome

\Finding of head circumference\Microcephaly\Congenital microcephaly\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 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 anomaly 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 anomaly 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 of palate\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Cleft palate, large ears, small head syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cleft palate, large ears, small head syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Cleft palate, large ears, small head syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate, large ears, small head syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cleft palate, large ears, small head syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cleft palate, large ears, small head syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Cleft palate, large ears, small head syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate, large ears, small head syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Macrotia\Cleft palate, large ears, small head syndrome
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. 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 Active Case insensitive SNOMED CT core

3637955017 Say Barber Hobbs syndrome en Synonym Active Case sensitive SNOMED CT core

3637956016 Cleft palate, large ears, small head syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cleft palate, large ears, small head syndrome	Associated morphology	Enlargement	true	Inferred relationship	Some	1
Cleft palate, large ears, small head syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Cleft palate, large ears, small head syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Cleft palate, large ears, small head syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Cleft palate, large ears, small head syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	4
Cleft palate, large ears, small head syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Cleft palate, large ears, small head syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Cleft palate, large ears, small head syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Cleft palate, large ears, small head syndrome	Finding site	Structure of head	true	Inferred relationship	Some	2
Cleft palate, large ears, small head syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Cleft palate, large ears, small head syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	Macrotia	true	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	Cleft palate	true	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	3
Cleft palate, large ears, small head syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Cleft palate, large ears, small head syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	3
Cleft palate, large ears, small head syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Cleft palate, large ears, small head syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cleft palate, large ears, small head syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Cleft palate, large ears, small head syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cleft palate, large ears, small head syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cleft palate, large ears, small head syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Cleft palate, large ears, small head syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Cleft palate, large ears, small head syndrome	Finding site	Entire external ear	true	Inferred relationship	Some	1
Cleft palate, large ears, small head syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3637954018	Cleft palate, large ears, small head syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3637955017	Say Barber Hobbs syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3637956016	Cleft palate, large ears, small head syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core