| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
6 |
| Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
5 |
| Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Hallermann-Streiff syndrome |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
8 |
| A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Lack of luster of hair (finding) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Normal hair |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Barber-Say syndrome (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
5 |
| Ischemic alopecia due to birth injury |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Small amount of hair spread out over an area. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Incontinentia pigmenti syndrome |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| Scarring alopecia due to lepromatous leprosy (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Habit tic affecting hair (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Acne keloidalis |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
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. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| Shaving of hair (procedure) |
Procedure site - Direct (attribute) |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Preoperative shaving of skin |
Procedure site - Direct (attribute) |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Loss of hair (finding) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Poor hair growth |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Partial failure of hair growth |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hair growth normal |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis caused by drug (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hirsutism caused by drug (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Alopecia due to thyroid disorder |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Alopecia due to iron deficiency |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Toxic anagen effluvium |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Scarring alopecia due to and following radiotherapy (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Scarring alopecia due to infectious disease (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
2 |
| Postmenopausal frontal fibrosing alopecia (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
8 |
| Hypertrichosis of bilateral eyelids |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis of right eyelid (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis of left eyelid |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis of right lower eyelid (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis of right upper eyelid (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis of left lower eyelid (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Hypertrichosis of left upper eyelid (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
4 |
| Slow rate of hair growth |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Sparse growth of hair |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Tufted hair growth (finding) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
1 |
| Schöpf-Schulz-Passarge syndrome |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
6 |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) |
Finding site |
True |
Hair structure (body structure) |
Inferred relationship |
Some |
3 |
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