| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital absence of thymus (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of gonads (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of spleen |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of sternum |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of urinary bladder |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of humerus |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of patella |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of urethra |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of eyelash |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of jejunum |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of clitoris |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of appendix |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of pancreas |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of stomach |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of ischium |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of maxilla |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of scapula |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of prostate |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of ear lobe |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of bronchus |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of vertebra |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of trachea |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of duodenum (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of mandible |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of fallopian tube |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of diaphragm |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of calcaneus |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of sternebra (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of eye bulge |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of bile duct (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of vena cava |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of one tooth |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of esophagus |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left hand |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of nasal bone |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of premaxilla (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of all fingers (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of portal vein (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of gallbladder (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of epididymis |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of hyoid bone |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of upper limb (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of right hand (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of epiglottis (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of carpal bone |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of tarsal bone |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of azygos vein |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of both testes (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of both testes (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of labium minor |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of labium major |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left testis (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left lower limb (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Partial congenital absence of teeth (disorder) |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 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 |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Postaxial tetramelic oligodactyly |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ectodermal dysplasia syndactyly syndrome |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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 |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Oligodontia and cancer predisposition syndrome |
Associated morphology |
False |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital alopecia |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ectrodactyly polydactyly syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Thumb deformity, alopecia, pigmentation anomaly syndrome |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital hypoplasia of ulna and split foot syndrome |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital absence of right mandibular condyle |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of left mandibular condyle |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of forearm and hand |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of forearm and hand |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of optic chiasma (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Adactyly |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Robin sequence and oligodactyly syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 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 |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of innominate vein (disorder) |
Associated morphology |
True |
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 |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital absence of left hemidiaphragm (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of right hemidiaphragm (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of right testis (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Aplasia cutis congenita of limb |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Aniridia, ptosis, intellectual disability, familial obesity syndrome |
Associated morphology |
True |
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 |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Scholte syndrome |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Gomez Lopez Hernandez syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pericardial and diaphragmatic defect syndrome |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Familial isolated congenital asplenia (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital absence of part of upper limb (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive aplasia cutis congenita of limb (disorder) |
Associated morphology |
True |
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 |
True |
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 |
True |
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 |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Choroidal atrophy and alopecia syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) |
Associated morphology |
True |
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 |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Anonychia |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Anonychia with bizarre flexural pigmentation |
Associated morphology |
True |
Absence (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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