| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital absence of innominate vein (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare, genetic, multiple congenital anomalies syndrome characterised by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of left foot (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of lower leg and foot (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of lower leg and foot (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of right foot |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of right hemidiaphragm (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left testis (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of right testis (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left hemidiaphragm (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Common atrioventricular canal |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Atrioventricular septal defect - isolated atrial component |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Ventricular septal defect with malaligned outlet septum and overriding truncal valve (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Robin sequence and oligodactyly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ectrodactyly polydactyly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Postaxial tetramelic oligodactyly |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Thumb deformity, alopecia, pigmentation anomaly syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ectodermal dysplasia syndactyly syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Anonychia with bizarre flexural pigmentation |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Acephalogaster |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ear auricle and external auditory canal absent |
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) |
1 |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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) |
3 |
| Congenital amputation of upper limb |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atrichia with papular lesions (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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) |
1 |
| Hydranencephaly with proliferative vasculopathy |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Bilateral congenital absence of fallopian tube |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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) |
2 |
| Autosomal recessive aplasia cutis congenita of limb (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hydranencephaly (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Tetralogy of Fallot with absent pulmonary valve |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Aplasia of fibula and ectrodactyly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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) |
1 |
| Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Ablepharon macrostomia syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Bilateral congenital absence of ovary (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) |
1 |
| Congenital hypoplasia of ulna and split foot syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Aplasia cutis with myopia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of forearm and hand |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of forearm and hand |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of forearm and hand |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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) |
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) |
2 |
| Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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) |
1 |
| Omocephalus |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Choroidal atrophy and alopecia syndrome (disorder) |
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) |
1 |
| Aphalangy and syndactyly with microcephaly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pericardial and diaphragmatic defect syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hypogonadism with prune belly syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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) |
1 |
| Scholte syndrome |
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) |
1 |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Oligodontia and cancer predisposition syndrome |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare skin disease characterised by the association of sebaceous naevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic naevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Didymosis aplasticosebacea (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left forearm and hand (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital absence of left forearm and hand (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left forearm and hand (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital absence of left forearm and hand (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of right forearm and hand (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital absence of right forearm and hand (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of right forearm and hand (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital absence of right forearm and hand (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oligodontia is a rare developmental dental anomaly with clinical features that include six or more missing teeth, lack of development of maxillary and mandibular alveolar bone height and reduced lower facial height. Variation in tooth morphology is also observed along with problems in tooth development, eruption and exfoliation. Possible causes of oligodontia include viral disease during pregnancy, genetic predisposition, metabolic imbalances, developmental abnormalities and environmental factors. Autosomal dominant mutations in PAX9 and MSX1 have been found in patients with molar non-syndromic oligodontia. |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Transverse arrest carpal level |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Transverse arrest metacarpal first ray |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intrauterine amputation of lower limb (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Transverse deficiency of hand |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Transverse arrest metacarpal second to fifth rays |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cor biloculare |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of body of uterus |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Epidermolysis bullosa simplex with hypodontia |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital absence of skin on scalp |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pulmonary trunk absent with absent pulmonary artery (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pulmonary trunk absent with absent left pulmonary artery (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pulmonary trunk absent with absent right pulmonary artery (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aplasia cutis congenita of limb |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of epiglottis (disorder) |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of all bilateral toes |
Associated morphology |
False |
Congenital absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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