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72914001: Palatal structure (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
121108013 Palate en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
502287011 Palatal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
813244012 Palatal structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

67 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Palatal structure Is a Lip and/or palatal structures false Inferred relationship Some
Palatal structure partie de Entire mouth region false Additional relationship Some
Palatal structure Is a Head part false Inferred relationship Some
Palatal structure Is a Oral cavity structure false Inferred relationship Some
Palatal structure Is a Structure of internal part of mouth false Inferred relationship Some
Palatal structure Is a Structure of subregion of head true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Cheilognathouranoschisis Finding site False Palatal structure Inferred relationship Some 1
Cheilognathopalatoschisis Finding site False Palatal structure Inferred relationship Some 1
Cleft of hard palate (disorder) Finding site False Palatal structure Inferred relationship Some 3
Median cleft lip and cleft of alveolar process of maxilla Finding site False Palatal structure Inferred relationship Some 2
Primary adenocarcinoma of palate (disorder) Finding site True Palatal structure Inferred relationship Some 1
Cleft hard and soft palate with cleft lip Finding site False Palatal structure Inferred relationship Some 1
Cleft of soft palate and bilateral cleft lip (disorder) Finding site False Palatal structure Inferred relationship Some 1
Cleft of soft palate and cleft lip (disorder) Finding site False Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Finding site False Palatal structure Inferred relationship Some 5
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Finding site False Palatal structure Inferred relationship Some 7
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Finding site False Palatal structure Inferred relationship Some 5
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). Finding site False Palatal structure Inferred relationship Some 11
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Finding site False Palatal structure Inferred relationship Some 5
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. Finding site False Palatal structure Inferred relationship Some 3
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Finding site True Palatal structure Inferred relationship Some 3
syndrome d'Okamoto Finding site False Palatal structure Inferred relationship Some 6
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. Finding site False Palatal structure Inferred relationship Some 4
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. Finding site False Palatal structure Inferred relationship Some 2
Cleft uvula Finding site False Palatal structure Inferred relationship Some 4
Submucous cleft of hard palate Finding site False Palatal structure Inferred relationship Some 2
Incomplete bilateral cleft palate Finding site False Palatal structure Inferred relationship Some 6
Cheilognathoschisis Finding site False Palatal structure Inferred relationship Some 4
Cleft of primary palate Finding site False Palatal structure Inferred relationship Some 2
Bilateral cleft of primary palate Finding site False Palatal structure Inferred relationship Some 2
Cleft hard palate with cleft lip, bilateral Finding site False Palatal structure Inferred relationship Some 6
Cleft hard palate, central Finding site False Palatal structure Inferred relationship Some 2
Cleft hard palate, bilateral Finding site False Palatal structure Inferred relationship Some 2
Incomplete cleft hard and soft palate Finding site False Palatal structure Inferred relationship Some 2
Cleft of soft palate Finding site False Palatal structure Inferred relationship Some 2
Cleft soft palate, bilateral Finding site False Palatal structure Inferred relationship Some 2
Complete cleft of soft palate (disorder) Finding site False Palatal structure Inferred relationship Some 2
Incomplete cleft of soft palate Finding site False Palatal structure Inferred relationship Some 2
Occult submucous cleft palate Finding site False Palatal structure Inferred relationship Some 2
Central incomplete cleft palate Finding site False Palatal structure Inferred relationship Some 2
Uranoplasty for cleft palate repair Procedure site - Direct (attribute) True Palatal structure Inferred relationship Some 2
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. Finding site False Palatal structure Inferred relationship Some 2
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Finding site True Palatal structure Inferred relationship Some 1
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). Finding site False Palatal structure Inferred relationship Some 1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Finding site False Palatal structure Inferred relationship Some 1
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Finding site True Palatal structure Inferred relationship Some 1
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Finding site True Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 1
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. Finding site False Palatal structure Inferred relationship Some 2
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. Finding site False Palatal structure Inferred relationship Some 1
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Finding site True Palatal structure Inferred relationship Some 2
syndrome d'Okamoto Finding site False Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 1
Cleft palate and bilateral cleft lip (disorder) Finding site True Palatal structure Inferred relationship Some 1
Cleft uvula Finding site False Palatal structure Inferred relationship Some 2
Cheilognathoprosoposchisis Finding site False Palatal structure Inferred relationship Some 11
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Finding site False Palatal structure Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. Finding site False Palatal structure Inferred relationship Some 2
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Finding site False Palatal structure Inferred relationship Some 1
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Finding site False Palatal structure Inferred relationship Some 2
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. Finding site False Palatal structure Inferred relationship Some 2
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. Finding site True Palatal structure Inferred relationship Some 1
Bilateral incomplete cleft palate with cleft lip Finding site False Palatal structure Inferred relationship Some 8
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. Finding site True Palatal structure Inferred relationship Some 1
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Finding site False Palatal structure Inferred relationship Some 2
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. Finding site False Palatal structure Inferred relationship Some 2
Cleft palate and bilateral cleft lip (disorder) Finding site False Palatal structure Inferred relationship Some 2
Cleft of soft palate and bilateral cleft lip (disorder) Finding site False Palatal structure Inferred relationship Some 5
Cleft of hard palate (disorder) Finding site False Palatal structure Inferred relationship Some 4
Cleft of soft palate and cleft lip (disorder) Finding site False Palatal structure Inferred relationship Some 6
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Finding site False Palatal structure Inferred relationship Some 5
Impaction of tooth in palate (disorder) Finding site True Palatal structure Inferred relationship Some 2
Cleft palate with left cleft lip Finding site True Palatal structure Inferred relationship Some 2
Cleft palate with right cleft lip Finding site False Palatal structure Inferred relationship Some 2
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Finding site False Palatal structure Inferred relationship Some 4
Submucous cleft palate Finding site True Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 3
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Finding site False Palatal structure Inferred relationship Some 3
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. Finding site False Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 2
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. Finding site True Palatal structure Inferred relationship Some 1
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. Finding site False Palatal structure Inferred relationship Some 2
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. Finding site False Palatal structure Inferred relationship Some 2
Otopalatodigital syndrome Finding site False Palatal structure Inferred relationship Some 4
Otopalatodigital syndrome Finding site False Palatal structure Inferred relationship Some 3
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. Finding site True Palatal structure Inferred relationship Some 1
Pilotto syndrome Finding site True Palatal structure Inferred relationship Some 1
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Finding site True Palatal structure Inferred relationship Some 3
Incomplete bilateral cleft palate Finding site False Palatal structure Inferred relationship Some 1
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Finding site True Palatal structure Inferred relationship Some 3
Bilateral incomplete cleft palate with cleft lip Finding site False Palatal structure Inferred relationship Some 1
syndrome d'Okamoto Finding site False Palatal structure Inferred relationship Some 2
Cleft palate with right cleft lip Finding site True Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 2
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Finding site True Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 1
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). Finding site True Palatal structure Inferred relationship Some 2
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. Finding site True Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 3
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Finding site True Palatal structure Inferred relationship Some 2
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. Finding site True Palatal structure Inferred relationship Some 4
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Finding site True Palatal structure Inferred relationship Some 1
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. Finding site True Palatal structure Inferred relationship Some 2
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. Finding site True Palatal structure Inferred relationship Some 1

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