| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Absence deformity of leg and congenital cataract syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Ablepharon macrostomia syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Atrichia with papular lesions (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Partial agenesis of pancreas (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Vici syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Anonychia with bizarre flexural pigmentation |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Bilateral congenital absence of ovary (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Bilateral congenital absence of ovary (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Bilateral congenital absence of fallopian tube |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Bilateral congenital absence of fallopian tube |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of urinary bladder and urethra (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of urinary bladder and urethra (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Anencephaly without rachischisis (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aniridia and absent patella syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aniridia and intellectual disability syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aplasia cutis with myopia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aphalangy and syndactyly with microcephaly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Incomplete congenital absence of thigh AND leg |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Aniridia, ptosis, intellectual disability, familial obesity syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Choroidal atrophy and alopecia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of pelvis and lower limb |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Aplasia of fibula and ectrodactyly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Lung agenesis with heart defect and thumb anomaly syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around a hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial haemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Scholte syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Congenital absence of gastric muscle (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Gomez Lopez Hernandez syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Lumbosacral agenesis |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive aplasia cutis congenita of limb (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Split hand, split foot malformation with sensorineural hearing loss syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Omocephalus |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Omocephalus |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Acephalobrachius (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Foetal anencephaly |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Anencephaly without rachischisis (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Sirenomelus (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Pericardial and diaphragmatic defect syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Familial isolated congenital asplenia (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Craniosynostosis fibular aplasia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
| Congenital hypoplasia of ulna and split foot syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Pseudoprogeria syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Aniridia, renal agenesis, psychomotor retardation syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aniridia, renal agenesis, psychomotor retardation syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Pseudoprogeria syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital absence of optic chiasma (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Congenital absence of forearm and hand |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital absence of forearm and hand |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Congenital absence of forearm and hand |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Congenital absence of right mandibular condyle |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left mandibular condyle |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Agenesis of left kidney (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Agenesis of right kidney (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Left renal agenesis co-occurrent with right renal hypoplasia |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Agenesis of right kidney co-occurrent with hypoplasia of left kidney (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left hand |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Agenesis of corpus callosum and abnormal genitalia syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Odonto onycho dysplasia with alopecia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability, spasticity, ectrodactyly syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of right hand (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of innominate vein (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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