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24216005: Congenital absence (morphologic abnormality)

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
40644015 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence Is a Aplasia true Inferred relationship Some
Congenital absence Is a anomalie congénitale false Inferred relationship Some
Congenital absence Is a Congenital malformation false Inferred relationship Some
Congenital absence Is a Absence (morphologic abnormality) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Transverse deficiency lower limb - metatarsal level Associated morphology False Congenital absence Inferred relationship Some 1
Transverse deficiency lower limb - hip level Associated morphology False Congenital absence Inferred relationship Some 1
Complete ablepharon Associated morphology False Congenital absence Inferred relationship Some 1
Duane-radial ray syndrome (disorder) Associated morphology False Congenital absence Inferred relationship Some 3
Ectrodactyly Associated morphology False Congenital absence Inferred relationship Some 3
hémimélie d'un membre inférieur Associated morphology False Congenital absence Inferred relationship Some 1
hémimélie d'un membre inférieur Associated morphology False Congenital absence Inferred relationship Some 3
Transverse deficiency lower limb - through femur Associated morphology False Congenital absence Inferred relationship Some 1
hémimélie d'un membre supérieur Associated morphology False Congenital absence Inferred relationship Some 4
Transverse deficiency lower limb - through tibia/fibula Associated morphology False Congenital absence Inferred relationship Some 1
Cleft hand with polydactyly Associated morphology False Congenital absence Inferred relationship Some 6
hémimélie Associated morphology False Congenital absence Inferred relationship Some 1
Hemimyelia Associated morphology False Congenital absence Inferred relationship Some 4
Incomplete congenital absence of thigh AND leg Associated morphology False Congenital absence Inferred relationship Some 1
Cleft hand - first cleft Associated morphology False Congenital absence Inferred relationship Some 4
anomalie transverse du bras au niveau de l'avant-bras Associated morphology False Congenital absence Inferred relationship Some 4
Cleft hand with syndactyly Associated morphology False Congenital absence Inferred relationship Some 6
Split foot Associated morphology False Congenital absence Inferred relationship Some 4
Cleft hand - central Associated morphology False Congenital absence Inferred relationship Some 4
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False Congenital absence Inferred relationship Some 6
Tongue absent Associated morphology False Congenital absence Inferred relationship Some 3
Adams-Oliver syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Congenital hypodontia, multiple teeth, related to systemic disease Associated morphology False Congenital absence Inferred relationship Some 2
Aglossia-adactyly syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Familial hypodontia Associated morphology False Congenital absence Inferred relationship Some 1
Hypodontia and nail dysgenesis Associated morphology False Congenital absence Inferred relationship Some 1
Congenital hypodontia, multiple teeth, unrelated to systemic disease Associated morphology False Congenital absence Inferred relationship Some 1
Partial congenital absence of teeth Associated morphology False Congenital absence Inferred relationship Some 2
Familial hypodontia Associated morphology False Congenital absence Inferred relationship Some 2
Hypodontia and nail dysgenesis Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absent hemidiaphragm - bilateral Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of diaphragm Associated morphology False Congenital absence Inferred relationship Some 1
Congenital hypodontia, multiple teeth, related to systemic disease Associated morphology False Congenital absence Inferred relationship Some 1
Congenital hypodontia, multiple teeth, unrelated to systemic disease Associated morphology False Congenital absence Inferred relationship Some 2
Partial absence of septum pellucidum (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Partial aphalangia of lower limb Associated morphology False Congenital absence Inferred relationship Some 1
A genetic syndrome characterized by the absence of all four limbs. Associated morphology False Congenital absence Inferred relationship Some 2
A genetic syndrome characterized by the absence of all four limbs. Associated morphology False Congenital absence Inferred relationship Some 3
A genetic syndrome characterized by the absence of all four limbs. Associated morphology False Congenital absence Inferred relationship Some 4
A genetic syndrome characterized by the absence of all four limbs. Associated morphology False Congenital absence Inferred relationship Some 5
Acephalostomia Associated morphology False Congenital absence Inferred relationship Some 4
Congenital complete absence of lower limb Associated morphology False Congenital absence Inferred relationship Some 1
Congenital complete absence of limb Associated morphology False Congenital absence Inferred relationship Some 1
Congenital tibial deficiency type III Associated morphology False Congenital absence Inferred relationship Some 1
Split foot Associated morphology False Congenital absence Inferred relationship Some 1
Partial aphalangia of upper limb Associated morphology False Congenital absence Inferred relationship Some 4
Aplasia cutis congenita (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Adams-Oliver syndrome Associated morphology False Congenital absence Inferred relationship Some 4
Congenital absence of skin on scalp with epidermal naevi Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia cutis in Trisomy 13 syndrome (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Hypoplasia of corpus callosum Associated morphology False Congenital absence Inferred relationship Some 1
Mullerian aplasia Associated morphology False Congenital absence Inferred relationship Some 1
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology False Congenital absence Inferred relationship Some 2
Partial agenesis of corpus callosum Associated morphology False Congenital absence Inferred relationship Some 1
Atrioventricular septal defect - isolated atrial component Associated morphology False Congenital absence Inferred relationship Some 5
Complete aphalangia of lower limb Associated morphology False Congenital absence Inferred relationship Some 1
Congenital partial absence of alimentary tract Associated morphology False Congenital absence Inferred relationship Some 1
Cor triloculare biventriculare (disorder) Associated morphology False Congenital absence Inferred relationship Some 3
Partial ablepharon Associated morphology False Congenital absence Inferred relationship Some 1
Common atrioventricular canal Associated morphology False Congenital absence Inferred relationship Some 5
Transverse deficiency of upper limb Associated morphology False Congenital absence Inferred relationship Some 1
Partial aphalangia of upper limb Associated morphology False Congenital absence Inferred relationship Some 1
Known OR suspected fetal anencephaly affecting obstetrical care Associated morphology False Congenital absence Inferred relationship Some 4
Congenital absence of liver and/or gallbladder (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Transverse deficiency of arm, upper arm level - short Associated morphology False Congenital absence Inferred relationship Some 1
Transverse deficiency of arm, upper arm level - long Associated morphology False Congenital absence Inferred relationship Some 1
Absent right superior vena cava Associated morphology False Congenital absence Inferred relationship Some 1
Absent bridging vein Associated morphology False Congenital absence Inferred relationship Some 1
Holoanencephaly (disorder) Associated morphology False Congenital absence Inferred relationship Some 4
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Associated morphology False Congenital absence Inferred relationship Some 6
Anencephalus Associated morphology False Congenital absence Inferred relationship Some 3
Anencephalus and similar anomalies Associated morphology False Congenital absence Inferred relationship Some 3
Incomplete anencephaly Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of rectum with fistula Associated morphology False Congenital absence Inferred relationship Some 2
Hemicentric sacral centrum Associated morphology False Congenital absence Inferred relationship Some 3
hémimélie d'un membre supérieur Associated morphology False Congenital absence Inferred relationship Some 2
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. Associated morphology False Congenital absence Inferred relationship Some 5
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. Associated morphology False Congenital absence Inferred relationship Some 4
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Associated morphology False Congenital absence Inferred relationship Some 2
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Associated morphology False Congenital absence Inferred relationship Some 7
Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. Associated morphology False Congenital absence Inferred relationship Some 1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. Associated morphology False Congenital absence Inferred relationship Some 2
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Associated morphology False Congenital absence Inferred relationship Some 3
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. Associated morphology False Congenital absence Inferred relationship Some 3
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978. Associated morphology False Congenital absence Inferred relationship Some 2
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Associated morphology False Congenital absence Inferred relationship Some 2
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. Associated morphology False Congenital absence Inferred relationship Some 3
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. Associated morphology False Congenital absence Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Associated morphology False Congenital absence Inferred relationship Some 3
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. Associated morphology False Congenital absence Inferred relationship Some 7
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. Associated morphology False Congenital absence Inferred relationship Some 3

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