87979003: Cleft palate (disorder)

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

\Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Cleft palate
\Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate
\Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cleft palate	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Cleft palate	Is a	Congenital anomaly of palate	false	Inferred relationship	Some
Cleft palate	Occurrence	Congenital	false	Inferred relationship	Some
Cleft palate	Finding site	Esophagus, stomach, and duodenum.	false	Inferred relationship	Some	3
Cleft palate	Finding site	Jaw region structure	false	Inferred relationship	Some
Cleft palate	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	1
Cleft palate	Finding site	Tongue structure	false	Inferred relationship	Some
Cleft palate	Associated morphology	Congenital malformation	false	Inferred relationship	Some	2
Cleft palate	Finding site	Palatal structure	false	Inferred relationship	Some	1
Cleft palate	Finding site	Oral cavity structure	false	Inferred relationship	Some	2
Cleft palate	Finding site	Face structure	false	Inferred relationship	Some	2
Cleft palate	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Cleft palate	Finding site	Upper aerodigestive tract structure	false	Inferred relationship	Some
Cleft palate	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Cleft palate	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Cleft palate	Is a	Congenital malformation	false	Inferred relationship	Some
Cleft palate	Is a	Disorder of palate (disorder)	false	Inferred relationship	Some
Cleft palate	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Cleft palate	Is a	Congenital anomaly of digestive tract	false	Inferred relationship	Some
Cleft palate	Finding site	Upper digestive tract structure	false	Inferred relationship	Some
Cleft palate	Is a	Congenital anomaly of palate	true	Inferred relationship	Some
Cleft palate	Finding site	Palatal structure	true	Inferred relationship	Some	1
Cleft palate	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	1
Cleft palate	Is a	Congenital malformation of upper alimentary tract	false	Inferred relationship	Some
Cleft palate	Is a	Orofacial cleft (disorder)	true	Inferred relationship	Some
Cleft palate	Occurrence	Congenital	false	Inferred relationship	Some	2
Cleft palate	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Cleft palate	Is a	Disorder of palate (disorder)	false	Inferred relationship	Some
Cleft palate	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	2
Cleft palate	Occurrence	Congenital	false	Inferred relationship	Some	3
Cleft palate	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	3
Cleft palate	Finding site	Palatal structure	false	Inferred relationship	Some	3
Cleft palate	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Cleft palate	Occurrence	Congenital	true	Inferred relationship	Some	1
Cleft palate	Is a	Oral lesion	false	Inferred relationship	Some
Cleft palate	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cleft palate	Finding site	Bone structure of head	false	Inferred relationship	Some	2
Cleft palate	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2
Cleft palate	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cleft of primary palate	Is a	True	Cleft palate	Inferred relationship	Some
Cleft of soft palate	Is a	True	Cleft palate	Inferred relationship	Some
Cleft hard and soft palate	Is a	False	Cleft palate	Inferred relationship	Some
Cleft palate with cleft lip	Is a	True	Cleft palate	Inferred relationship	Some
Unilateral cleft hard palate	Is a	False	Cleft palate	Inferred relationship	Some
Cleft palate NOS	Is a	False	Cleft palate	Inferred relationship	Some
[X]Cleft palate, unspecified, bilateral	Is a	False	Cleft palate	Inferred relationship	Some
Cleft palate, unspecified	Is a	False	Cleft palate	Inferred relationship	Some
Complete cleft palate NOS	Is a	False	Cleft palate	Inferred relationship	Some
Incomplete cleft palate NOS	Is a	False	Cleft palate	Inferred relationship	Some
History of cleft palate (situation)	Associated finding	False	Cleft palate	Inferred relationship	Some	1
Cleft lip and cleft of alveolar process of maxilla (disorder)	Is a	False	Cleft palate	Inferred relationship	Some
Incomplete bilateral cleft palate	Is a	False	Cleft palate	Inferred relationship	Some
Cleft uvula	Is a	False	Cleft palate	Inferred relationship	Some
History of cleft palate (situation)	Associated finding	True	Cleft palate	Inferred relationship	Some	1
incompétence vélopharyngée due à une fente palatine	Due to	False	Cleft palate	Inferred relationship	Some	1
Family history of cleft palate (situation)	Associated finding	False	Cleft palate	Inferred relationship	Some	1
Family history of cleft palate (situation)	Associated finding	True	Cleft palate	Inferred relationship	Some	1
Unilateral cleft hard palate	Associated finding	False	Cleft palate	Inferred relationship	Some	1
Family history of cleft palate (situation)	Associated finding	False	Cleft palate	Inferred relationship	Some	1
Unilateral cleft hard palate	Associated finding	False	Cleft palate	Inferred relationship	Some	1
Cleft of hard palate (disorder)	Is a	True	Cleft palate	Inferred relationship	Some
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Is a	True	Cleft palate	Inferred relationship	Some
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.	Is a	True	Cleft palate	Inferred relationship	Some
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Is a	True	Cleft palate	Inferred relationship	Some
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Is a	True	Cleft palate	Inferred relationship	Some
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	Is a	True	Cleft palate	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.	Is a	True	Cleft palate	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.	Is a	True	Cleft palate	Inferred relationship	Some
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.	Is a	False	Cleft palate	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).	Is a	True	Cleft palate	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	True	Cleft palate	Inferred relationship	Some
syndrome d'Okamoto	Is a	False	Cleft palate	Inferred relationship	Some
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	Is a	True	Cleft palate	Inferred relationship	Some
Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	Is a	True	Cleft palate	Inferred relationship	Some
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.	Is a	True	Cleft palate	Inferred relationship	Some
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.	Is a	True	Cleft palate	Inferred relationship	Some
Submucous cleft palate	Is a	True	Cleft palate	Inferred relationship	Some
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.	Is a	True	Cleft palate	Inferred relationship	Some
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.	Is a	True	Cleft palate	Inferred relationship	Some
Byzanthine arch palate	Is a	False	Cleft palate	Inferred relationship	Some
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.	Is a	True	Cleft palate	Inferred relationship	Some
Otopalatodigital syndrome	Is a	False	Cleft palate	Inferred relationship	Some
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	Is a	True	Cleft palate	Inferred relationship	Some
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	Is a	True	Cleft palate	Inferred relationship	Some
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.	Is a	True	Cleft palate	Inferred relationship	Some
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal.	Is a	True	Cleft palate	Inferred relationship	Some
Incomplete cleft palate (disorder)	Is a	True	Cleft palate	Inferred relationship	Some
Uranoplasty for cleft palate repair	Has focus	True	Cleft palate	Inferred relationship	Some	1
Grafting of palate for cleft palate repair (procedure)	Has focus	True	Cleft palate	Inferred relationship	Some	3
Provision of orthopedic feeding plate (procedure)	Has focus	True	Cleft palate	Inferred relationship	Some	2
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.	Is a	True	Cleft palate	Inferred relationship	Some
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	Is a	True	Cleft palate	Inferred relationship	Some
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	Is a	True	Cleft palate	Inferred relationship	Some
Repair of cleft palate	Has focus	True	Cleft palate	Inferred relationship	Some	2
Repair of cleft palate using pharyngeal flap (procedure)	Has focus	True	Cleft palate	Inferred relationship	Some	3
Langenbeck operation, cleft palate repair	Has focus	True	Cleft palate	Inferred relationship	Some	2
Dorrance operation, push-back operation for cleft palate	Has focus	True	Cleft palate	Inferred relationship	Some	2
Wardill operation, cleft palate repair	Has focus	True	Cleft palate	Inferred relationship	Some	2
Repair of anterior cleft palate	Has focus	True	Cleft palate	Inferred relationship	Some	2
Uranorrhaphy for cleft palate repair	Has focus	True	Cleft palate	Inferred relationship	Some	2
Primary repair of cleft palate (procedure)	Has focus	True	Cleft palate	Inferred relationship	Some	2
Repair of anterior cleft palate with local flap	Has focus	True	Cleft palate	Inferred relationship	Some	2
Repair of anterior cleft palate with vomerine flap	Has focus	True	Cleft palate	Inferred relationship	Some	2
Pharyngoplasty for cleft palate	Has focus	True	Cleft palate	Inferred relationship	Some	3
Incomplete closure of velopharyngeal apparatus due to cleft palate	Due to	True	Cleft palate	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities.	Is a	True	Cleft palate	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
145838018	Cleft palate	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
145840011	Uranoschisis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
145841010	Palatoschisis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
507834011	CP - Cleft palate	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
830565012	Cleft palate (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
923411000195119	palatoschisi	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
135141000172116	fente palatine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393191001000117	Gaumenspalte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module